Condition Lookup

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Sub-Category:

Congenital hypothyroidism

Specialty: Pediatrics

Symptoms:
jaundice; poor feeding; lethargy; hoarse cry; constipation; prolonged neonatal jaundice; large anterior fontanelle; macroglossia; puffy face; dry skin; hypotonia

Root Cause:
Underactive or absent thyroid gland at birth, leading to insufficient thyroid hormone production required for normal growth and brain development.

How it's Diagnosed: videos
Diagnosed through newborn screening with elevated TSH and low T4 levels.

Treatment:
Treated with lifelong levothyroxine replacement to ensure normal growth and development.

Medications:
Levothyroxine is prescribed, which is a synthetic thyroid hormone (T4 replacement) used to normalize thyroid hormone levels.

Prevalence: How common the health condition is within a specific population.
Occurs in approximately 1 in 2,000 to 4,000 live births globally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Female sex, family history of thyroid disorders, iodine deficiency during pregnancy, genetic mutations affecting thyroid development.

Prognosis: The expected outcome or course of the condition over time.
Excellent with early detection and treatment; normal growth and development can be achieved if treatment begins within the first few weeks of life. Untreated cases can lead to intellectual disability and stunted growth.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, growth retardation, developmental delays, and permanent neurological impairment if untreated.

Hyperthyroidism (e.g., Graves’ disease)

Specialty: Pediatrics

Category: Endocrine Disorders

Sub-category: Thyroid Disorders

Symptoms:
weight loss despite normal or increased appetite; rapid heartbeat (tachycardia); heat intolerance; tremors; irritability; exophthalmos (protrusion of the eyes); goiter; sweating; diarrhea; sleep disturbances; fatigue

Root Cause:
Overproduction of thyroid hormones due to autoimmune stimulation of the thyroid gland by thyroid-stimulating immunoglobulins (TSIs).

How it's Diagnosed: videos
Diagnosed by low TSH, elevated T4/T3 levels, and thyroid receptor antibodies.

Treatment:
Treated with antithyroid medications (e.g., methimazole), radioactive iodine therapy, or surgery, with beta-blockers to control symptoms.

Medications:
Antithyroid medications - Methimazole (first-line treatment) and propylthiouracil (used in certain cases, such as during the first trimester of pregnancy). Beta-blockers - Propranolol or atenolol to control symptoms such as rapid heartbeat and tremors.

Prevalence: How common the health condition is within a specific population.
Rare in children; more common in adolescent females. Estimated prevalence is about 1 in 10,000 children.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Female sex, family history of autoimmune thyroid disease, other autoimmune conditions, exposure to iodine excess or deficiency.

Prognosis: The expected outcome or course of the condition over time.
Good with treatment; remission is possible with antithyroid medication, but relapses can occur. Severe or untreated cases may lead to thyroid storm, a life-threatening complication.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Thyroid storm, heart problems (e.g., arrhythmias, cardiomyopathy), osteoporosis, vision problems, or permanent eye damage in severe exophthalmos.